P51L (p.Pro51Leu) variant of OTOF (Otoferlin)
P51L (p.Pro51Leu) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive nonsyndromic hearing loss 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- rs150132765
- ClinGen CA1564784
- ClinVar RCV000275983
- ClinVar RCV001139472
- Conflicting interpretations
- not provided; Autosomal recessive nonsyndromic hearing loss 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.48
- CADD 24.00
- PolyPhen-2 0.50
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive nonsyndromic hearing loss 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00057)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)